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The Journey to Diagnosis in Rare Disease

For people living with a rare disease, the road to diagnosis can be very difficult. Many patients must live through years of tests and doctor visits before they get the answers they need. This is especially common for people living with acid sphingomyelinase deficiency (ASMD) and the other types of Niemann-Pick disease.  

Knowing the symptoms
The first steps in the path to diagnosis are knowing what to look for and understanding the symptoms.  In ASMD factors including heterogeneity (variability in symptoms and progression), small patient population and lack of awareness are major challenges. For this reason, efforts to build broader awareness of ASMD are critically important. 

Testing and treatment options
If a clinician suspects ASMD, diagnosis can be confirmed using a test to measure levels of the ASM enzyme in the blood or using genetic testing. 

Currently, there are no approved treatments for ASMD, but there may be hope on the horizon. Pharma company Sanofi recently announced results from a phase 3 clinical trial for a therapy that showed sustained improvement across multiple clinical manifestations of ASMD including lung function and reduction of spleen and liver volumes. If approved, this would become the first therapy available for the treatment of ASMD.

Get the information you need
In addition to information available from NNPDF, Sanofi also recently launched a new website called with information for both patients and clinicians. We encourage all patients and families to use and share all the resources that are available to understand ASMD, especially as research continues to advance toward a possible treatment.   

The importance of building awareness
While the diagnostic journey for people living with rare diseases can be long, there are ways that we can help to improve this process. By spreading awareness about a disease like ASMD and sharing information with family and friends, we can help to educate patients and clinicians about what to look out for and how to better recognize the disease.

In addition, sharing resources with your local medical centers is another great way to help inform people of the disease and help other families obtain a faster diagnosis. This fact sheet is a great example of a resource to share that provides an outline of ASMD and information about where and how to get tested.

And as always, NNPDF is here to support families in any way we can. We are available to answer questions about a disease and provide resources for support if you suspect you or your family member might be living with any form of Niemann-Pick disease. Please reach out to family services at any time if you need guidance or support: Together, we can work to build broader awareness of this disease and help support an easier and faster diagnosis journey for all future patients.

Supporting one another. Supporting our community.